List of variants reported as likely benign for combined pituitary hormone deficiencies, genetic form by Invitae

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 182

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HGVS	dbSNP	gnomAD frequency
NM_003865.3(HESX1):c.525G>A (p.Ala175=)	rs141063672	0.00123
NM_003865.3(HESX1):c.255G>A (p.Ser85=)	rs146029258	0.00022
NM_000061.3(BTK):c.1140A>G (p.Gln380=)	rs782184877	0.00018
NM_000061.3(BTK):c.1239T>C (p.Phe413=)	rs150990075	0.00014
NM_000061.3(BTK):c.1590C>T (p.Asn530=)	rs375450527	0.00006
NM_003865.3(HESX1):c.33C>T (p.Leu11=)	rs775835444	0.00005
NM_000061.3(BTK):c.573G>A (p.Thr191=)	rs146707427	0.00004
NM_000061.3(BTK):c.363G>A (p.Arg121=)	rs781811193	0.00002
NM_000061.3(BTK):c.63A>G (p.Ser21=)	rs781799902	0.00002
NM_000061.3(BTK):c.1155T>C (p.Pro385=)	rs782654519	0.00001
NM_000061.3(BTK):c.1176C>T (p.Tyr392=)	rs782429199	0.00001
NM_000061.3(BTK):c.1392C>T (p.Cys464=)	rs373846453	0.00001
NM_000061.3(BTK):c.142-8C>T	rs782365356	0.00001
NM_000061.3(BTK):c.1475G>A (p.Arg492His)	rs782338603	0.00001
NM_000061.3(BTK):c.1482G>A (p.Gln494=)	rs1555977817	0.00001
NM_000061.3(BTK):c.1737C>T (p.Asp579=)	rs377324584	0.00001
NM_000061.3(BTK):c.1791A>G (p.Pro597=)	rs1340458277	0.00001
NM_000061.3(BTK):c.1800A>G (p.Arg600=)	rs1926357397	0.00001
NM_000061.3(BTK):c.1831G>T (p.Ala611Ser)	rs1555977331	0.00001
NM_000061.3(BTK):c.189T>C (p.Cys63=)	rs782683829	0.00001
NM_000061.3(BTK):c.303C>T (p.Pro101=)	rs1383556662	0.00001
NM_000061.3(BTK):c.309+17C>T	rs1555980312	0.00001
NM_000061.3(BTK):c.310-7G>A	rs781841095	0.00001
NM_000061.3(BTK):c.391+19A>T	rs1555980038	0.00001
NM_000061.3(BTK):c.609G>A (p.Pro203=)	rs781964043	0.00001
NM_000061.3(BTK):c.6C>T (p.Ala2=)	rs372818780	0.00001
NM_000061.3(BTK):c.852A>G (p.Lys284=)	rs1057515724	0.00001
NM_000061.3(BTK):c.894+15A>C	rs377652560	0.00001
NM_000061.3(BTK):c.974+7G>A	rs1555978188	0.00001
NM_003865.3(HESX1):c.517C>T (p.Leu173=)	rs760501622	0.00001
NM_000061.3(BTK):c.1053T>C (p.Leu351=)
NM_000061.3(BTK):c.1083C>T (p.Tyr361=)	rs1410917239
NM_000061.3(BTK):c.1102+13G>A
NM_000061.3(BTK):c.1102+20G>A
NM_000061.3(BTK):c.1103-17CT[4]
NM_000061.3(BTK):c.1103-23_1103-20del
NM_000061.3(BTK):c.1177+8C>T
NM_000061.3(BTK):c.1178-17C>G
NM_000061.3(BTK):c.1178-8A>T
NM_000061.3(BTK):c.1178-9T>C
NM_000061.3(BTK):c.1197A>G (p.Pro399=)
NM_000061.3(BTK):c.1245A>T (p.Val415=)	rs2147428320
NM_000061.3(BTK):c.1266A>G (p.Arg422=)
NM_000061.3(BTK):c.1272G>A (p.Gln424=)
NM_000061.3(BTK):c.1275C>T (p.Tyr425=)
NM_000061.3(BTK):c.1284C>T (p.Ala428=)
NM_000061.3(BTK):c.1317A>G (p.Glu439=)
NM_000061.3(BTK):c.1349+11G>C
NM_000061.3(BTK):c.1349+18C>T
NM_000061.3(BTK):c.1349+20C>T
NM_000061.3(BTK):c.1349+7T>G
NM_000061.3(BTK):c.1350-4G>A
NM_000061.3(BTK):c.1350-6C>T	rs1926477882
NM_000061.3(BTK):c.1350-9T>C
NM_000061.3(BTK):c.1365G>A (p.Glu455=)
NM_000061.3(BTK):c.1377G>A (p.Gln459=)
NM_000061.3(BTK):c.1378T>C (p.Leu460=)
NM_000061.3(BTK):c.1386C>T (p.Gly462=)
NM_000061.3(BTK):c.141+12G>A
NM_000061.3(BTK):c.141+13A>G
NM_000061.3(BTK):c.141+16A>G
NM_000061.3(BTK):c.141+19A>C
NM_000061.3(BTK):c.1416C>T (p.Ile472=)
NM_000061.3(BTK):c.142-12T>A
NM_000061.3(BTK):c.142-12T>C
NM_000061.3(BTK):c.142-16T>A
NM_000061.3(BTK):c.142-4T>C
NM_000061.3(BTK):c.142-5del
NM_000061.3(BTK):c.1458G>A (p.Leu486=)
NM_000061.3(BTK):c.150C>A (p.Gly50=)
NM_000061.3(BTK):c.1524C>T (p.Ala508=)
NM_000061.3(BTK):c.1536G>A (p.Leu512=)
NM_000061.3(BTK):c.1566+20G>A
NM_000061.3(BTK):c.1566+7C>T
NM_000061.3(BTK):c.1567-9G>T
NM_000061.3(BTK):c.1575A>G (p.Arg525=)
NM_000061.3(BTK):c.1602T>G (p.Val534=)
NM_000061.3(BTK):c.1626G>T (p.Leu542=)	rs2147425748
NM_000061.3(BTK):c.1631+18A>T
NM_000061.3(BTK):c.1632-15C>T
NM_000061.3(BTK):c.1632-18G>A
NM_000061.3(BTK):c.1662A>C (p.Ser554=)
NM_000061.3(BTK):c.1692C>T (p.Ser564=)
NM_000061.3(BTK):c.1750+11A>G
NM_000061.3(BTK):c.1750+16T>A
NM_000061.3(BTK):c.1751-16T>C
NM_000061.3(BTK):c.1751-18A>C
NM_000061.3(BTK):c.1751-18A>T
NM_000061.3(BTK):c.1751-8C>T
NM_000061.3(BTK):c.1752G>C (p.Gly584=)
NM_000061.3(BTK):c.1822G>A (p.Glu608Lys)
NM_000061.3(BTK):c.1833C>T (p.Ala611=)
NM_000061.3(BTK):c.1852A>C (p.Arg618=)	rs1569290824
NM_000061.3(BTK):c.1884C>A (p.Thr628=)
NM_000061.3(BTK):c.1908+18A>T
NM_000061.3(BTK):c.1908+7G>T
NM_000061.3(BTK):c.1909-17T>G
NM_000061.3(BTK):c.1909-18C>T
NM_000061.3(BTK):c.1909-20T>C
NM_000061.3(BTK):c.1909-7G>A
NM_000061.3(BTK):c.234G>A (p.Gln78=)
NM_000061.3(BTK):c.240+15A>G
NM_000061.3(BTK):c.240+17G>C
NM_000061.3(BTK):c.240+8G>A
NM_000061.3(BTK):c.240+9A>T
NM_000061.3(BTK):c.241-4A>G
NM_000061.3(BTK):c.241-5T>C	rs2147444963
NM_000061.3(BTK):c.241-7A>G
NM_000061.3(BTK):c.258C>T (p.Ser86=)
NM_000061.3(BTK):c.279A>T (p.Ser93=)
NM_000061.3(BTK):c.303C>G (p.Pro101=)
NM_000061.3(BTK):c.309+13C>T
NM_000061.3(BTK):c.309+8A>G
NM_000061.3(BTK):c.310-19T>A
NM_000061.3(BTK):c.310-5C>T
NM_000061.3(BTK):c.318T>C (p.Tyr106=)
NM_000061.3(BTK):c.321T>C (p.Asp107=)
NM_000061.3(BTK):c.336C>T (p.Tyr112=)
NM_000061.3(BTK):c.357A>G (p.Glu119=)
NM_000061.3(BTK):c.36G>A (p.Lys12=)
NM_000061.3(BTK):c.37C>A (p.Arg13=)
NM_000061.3(BTK):c.392-8T>C
NM_000061.3(BTK):c.397C>A (p.Arg133=)
NM_000061.3(BTK):c.444C>A (p.Ile148=)
NM_000061.3(BTK):c.457C>A (p.Leu153Ile)
NM_000061.3(BTK):c.502T>C (p.Leu168=)
NM_000061.3(BTK):c.516T>C (p.Asn172=)
NM_000061.3(BTK):c.520+18T>C
NM_000061.3(BTK):c.520+19A>G
NM_000061.3(BTK):c.521-11T>C	rs1926696577
NM_000061.3(BTK):c.521-16G>C
NM_000061.3(BTK):c.521-5T>C
NM_000061.3(BTK):c.522C>T (p.Ser174=)
NM_000061.3(BTK):c.543C>T (p.His181=)
NM_000061.3(BTK):c.561T>C (p.Pro187=)
NM_000061.3(BTK):c.573G>T (p.Thr191=)
NM_000061.3(BTK):c.576T>C (p.Pro192=)
NM_000061.3(BTK):c.588+14C>G
NM_000061.3(BTK):c.589-12C>T
NM_000061.3(BTK):c.589-13C>T
NM_000061.3(BTK):c.589-17T>C
NM_000061.3(BTK):c.589-4A>G
NM_000061.3(BTK):c.593T>C (p.Leu198Ser)
NM_000061.3(BTK):c.608C>T (p.Pro203Leu)
NM_000061.3(BTK):c.60A>G (p.Thr20=)
NM_000061.3(BTK):c.624A>C (p.Ala208=)
NM_000061.3(BTK):c.633C>T (p.Val211=)
NM_000061.3(BTK):c.639A>C (p.Thr213=)
NM_000061.3(BTK):c.696T>C (p.Asp232=)
NM_000061.3(BTK):c.776+16C>T
NM_000061.3(BTK):c.777-16A>G
NM_000061.3(BTK):c.777-9C>G
NM_000061.3(BTK):c.804T>C (p.Tyr268=)
NM_000061.3(BTK):c.839+19G>A
NM_000061.3(BTK):c.840-17G>T
NM_000061.3(BTK):c.840-8C>T
NM_000061.3(BTK):c.846T>C (p.Tyr282=)	rs1603007231
NM_000061.3(BTK):c.861T>C (p.Thr287=)
NM_000061.3(BTK):c.879A>G (p.Gln293=)
NM_000061.3(BTK):c.885A>C (p.Leu295=)	rs2041331171
NM_000061.3(BTK):c.894+7G>A	rs886044875
NM_000061.3(BTK):c.894+9G>A
NM_000061.3(BTK):c.895-13T>C
NM_000061.3(BTK):c.895-7G>T
NM_000061.3(BTK):c.974+17C>T
NM_000061.3(BTK):c.974+18A>G
NM_000061.3(BTK):c.975-19T>G
NM_000061.3(BTK):c.975-4T>G
NM_000061.3(BTK):c.99C>G (p.Thr33=)
NM_000061.3(BTK):c.99C>T (p.Thr33=)
NM_003865.3(HESX1):c.102C>T (p.Asp34=)
NM_003865.3(HESX1):c.105T>C (p.Cys35=)
NM_003865.3(HESX1):c.150C>T (p.Ser50=)	rs1299316380
NM_003865.3(HESX1):c.157+19G>T
NM_003865.3(HESX1):c.303A>G (p.Arg101=)
NM_003865.3(HESX1):c.318T>C (p.Tyr106=)
NM_003865.3(HESX1):c.358-20T>C
NM_003865.3(HESX1):c.459+15T>C
NM_003865.3(HESX1):c.459+18T>C
NM_003865.3(HESX1):c.460-10T>A
NM_003865.3(HESX1):c.498C>T (p.Ser166=)
NM_003865.3(HESX1):c.75A>G (p.Arg25=)

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